Hemochromatosis (HFE)

The HFE is located on short arm of chromosome 6 at location 6p21.3. Unusually, the official gene symbol is not an abbreviation of the official name. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary hemochromatosis,(HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.The mutation or polymorphism most commonly associated with hemochromatosis is p.C282Y. About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males are at high risk of developing hemochromatosis.